On July 27, 2022 our lives changed forever.
At just 8 months old, our sweet baby boy was diagnosed with Phelan-McDermid Syndrome. To say we were shocked, would be the greatest understatement of the world.
After 3 heartbreaking miscarriages, all we dreamed of was to bring a healthy baby into this world. Niko was born at 37 weeks via rushed c-section and was immediately taken to the NICU due to respiratory distress. They told us all of his complications seemed as if he was born 7-10 weeks premature, not 3. But after 2 long weeks filled with beeping machines and endless tests, we were finally able to bring our baby home with us.
Throughout the first 6 months of Niko’s life we had seen just about every specialist imaginable due to various health concerns with one thing leading to another. But after every appointment we were given the “all clear” and that everything would “clear up on its own as he got older”.
However, we felt the need to push forward to find more definitive answers for Niko. We were referred to a pediatric neurologist who had recommended us to do some genetic testing “to rule things out”. A few weeks later, we got the results and our world came crashing down.
Niko's diagnosis of PMS is considered "De Novo", which means that it happened "by chance" and not inherited from either parent... "just some bad luck".
After his diagnosis, we had no clue how to pick up the pieces after our lives felt completely shattered.
We were told he may never walk, he may never talk, he may develop many different comorbidities that come along with his syndrome- but every single day he continues to surprise us and surpass every expectation they ever gave him.
Although we of course mourn the life that we had hoped and dreamed Niko would have, we continue to celebrate the future ahead of him filled with opportunities and monumental milestones- however that may look like.
We now simply cherish every single accomplishment and “inchstone” that he meets.
We have no idea what the future holds for our guy, but we know that we have the most loving and supportive team behind us every step of the way.
We will continue to advocate and push for research, treatments, and hopefully one day, a cure.
The mission of Phelan-McDermid Syndrome Foundation is to improve the quality of life of people affected by Phelan-McDermid syndrome worldwide by accelerating research, providing family support, and raising awareness.
If you are interested in learning more about Phelan-McDermid Syndrome, please visit Pmsf.org
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2/19/2023 Update:
The outpouring of love that we have received after starting our Phelan-McDermid Syndrome Foundation fundraiser is something that I can barely even comprehend.
Within 10 minutes of posting, we had reached our goal of $1,000, and within 24 hours, we surpassed $10,000 raised!!!! My mind is just blown that that was even a possibility.
Within seconds of posting; texts, calls, and messages came pouring in with so much love and support that I couldn’t stop crying for hours. Happy, overwhelmed, and full of relief tears.
Seeing and feeling the immense love and support that was immediately shown to Niko and our family was something I could have never prepared myself for.
I’ve almost posted Niko’s story probably over 100 times in the past six months but often never knew what to say or when it would feel like the right time to make it “public”. To be honest, I was scared of letting Niko’s diagnosis leave our little bubble of family and friends. I just wanted to protect my baby from the world that can often be very negative and unkind.
I know now that the power of love and community support is undeniable. Our “village” just grew so much in size, and my heart just explodes with gratitude.
With donations continuing to come in, and our climbing total FAR surpassing our original goal, Jon and I can only simply thank you. From the bottom of our hearts, we love you all and we thank you all so much.
We hope that with every dollar donated, the future for Niko and the 3100+ other children diagnosed with this rare condition, their lives will be positively impacted by your love and support for years to come.